DisGeNET - a database of gene-disease associations

TSEN34, tRNA splicing endonuclease subunit 34, 79042

N. diseases: 30; N. variants: 5

Disease: Visual Impairment ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3665347
Disease:	Visual Impairment

Visual Impairment

0.400

Biomarker

phenotype

CTD_human

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

2008

CUI:	C3665347
Disease:	Visual Impairment

Visual Impairment

0.400

Biomarker

phenotype

HPO